CTNND2
CTNND2 (Catenin Delta 2) is a Protein Coding gene. Diseases associated with CTNND2 include Benign Adult Familial Myoclonic Epilepsy and Cri-Du-Chat Syndrome. Among its related pathways are Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is PKP4.
Full Name
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
Function
Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484).
Involved in the regulation of Wnt signaling (PubMed:25807484).
It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity).
Functions as a transcriptional activator when bound to ZBTB33 (By similarity).
May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules.
Biological Process
Cell adhesion Source: ProtInc
Cell-cell adhesion Source: GO_Central
Cell-cell junction assembly Source: GO_Central
Dendritic spine morphogenesis Source: UniProtKB
Regulation of canonical Wnt signaling pathway Source: UniProtKB
Signal transduction Source: ProtInc
Synapse organization Source: UniProtKB
Wnt signaling pathway Source: UniProtKB-KW
Cellular Location
Nucleus; Adherens junction; Dendrite; Perikaryon
Involvement in disease
Defects in CTNND2, including deleterious missense and copy number variants (CNVs) are involved in autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.
PTM
O-glycosylated.
Phosphorylated by CDK5 (By similarity). Phosphorylated by GSK3B (PubMed:19706605).
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